← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 15-49614173-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=49614173&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 49614173,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000299338.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "NM_152647.3",
"protein_id": "NP_689860.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": "ENST00000299338.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "ENST00000299338.11",
"protein_id": "ENSP00000299338.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": "NM_152647.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "ENST00000561064.5",
"protein_id": "ENSP00000453028.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "NM_001330293.2",
"protein_id": "NP_001317222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "ENST00000559905.5",
"protein_id": "ENSP00000453379.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": -4,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "ENST00000560246.1",
"protein_id": "ENSP00000454081.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "ENST00000558594.5",
"protein_id": "ENSP00000452616.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": -4,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "n.315+948A>G",
"hgvs_p": null,
"transcript": "ENST00000558615.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "n.321+948A>G",
"hgvs_p": null,
"transcript": "ENST00000558862.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "n.51+948A>G",
"hgvs_p": null,
"transcript": "ENST00000561116.5",
"protein_id": "ENSP00000453748.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "n.51+948A>G",
"hgvs_p": null,
"transcript": "ENST00000561319.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_005254213.4",
"protein_id": "XP_005254270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 533,
"cds_start": -4,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_005254214.4",
"protein_id": "XP_005254271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 533,
"cds_start": -4,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_006720423.4",
"protein_id": "XP_006720486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 533,
"cds_start": -4,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_047432220.1",
"protein_id": "XP_047288176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 533,
"cds_start": -4,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_005254215.4",
"protein_id": "XP_005254272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_005254216.4",
"protein_id": "XP_005254273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_047432221.1",
"protein_id": "XP_047288177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_006720426.3",
"protein_id": "XP_006720489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 486,
"cds_start": -4,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_047432222.1",
"protein_id": "XP_047288178.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 486,
"cds_start": -4,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_017021990.2",
"protein_id": "XP_016877479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": -4,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.-262+948A>G",
"hgvs_p": null,
"transcript": "XM_047432223.1",
"protein_id": "XP_047288179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": -4,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_017021994.2",
"protein_id": "XP_016877483.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": -4,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_047432224.1",
"protein_id": "XP_047288180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": -4,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_017021995.2",
"protein_id": "XP_016877484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": -4,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.-120+948A>G",
"hgvs_p": null,
"transcript": "XM_011521320.2",
"protein_id": "XP_011519622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": -4,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.-183+948A>G",
"hgvs_p": null,
"transcript": "XM_017021996.2",
"protein_id": "XP_016877485.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": -4,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_011521321.3",
"protein_id": "XP_011519623.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.-120+948A>G",
"hgvs_p": null,
"transcript": "XM_011521322.2",
"protein_id": "XP_011519624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 387,
"cds_start": -4,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_047432225.1",
"protein_id": "XP_047288181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": -4,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_047432226.1",
"protein_id": "XP_047288182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_047432227.1",
"protein_id": "XP_047288183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_011521324.2",
"protein_id": "XP_011519626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": -4,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_011521325.4",
"protein_id": "XP_011519627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": -4,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_024449863.2",
"protein_id": "XP_024305631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_047432228.1",
"protein_id": "XP_047288184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": -4,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"hgvs_c": "c.51+948A>G",
"hgvs_p": null,
"transcript": "XM_024449865.2",
"protein_id": "XP_024305633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 291,
"cds_start": -4,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAM227B",
"gene_hgnc_id": 26543,
"dbsnp": "rs10519233",
"frequency_reference_population": 0.18384053,
"hom_count_reference_population": 3165,
"allele_count_reference_population": 27982,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.183841,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 27982,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 3165,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.717,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000299338.11",
"gene_symbol": "FAM227B",
"hgnc_id": 26543,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.51+948A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}